Chromosome analysis, cytogenetic analysis, karyotyping
Analysis of cultured lymphocytes using G-banding, STAT studies available
7.0 mL (min. 5.0 mL) whole blood in sodium heparin
1.0 mL min. newborn blood in sodium heparin (pediatric tube)
2.0 mL (min. 1.0 mL) percutaneous umbilical blood in sodium heparin
Ship with a cool pack (refrigerated).
Call before sending specimen on Friday
Ship Saturday for Monday delivery
Protect sample from extreme temperature
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
46,XY: normal male / 46,XX: normal female
Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. There are many indications for performing chromosome studies. These include multiple congenital abnormalities, mental retardation of unknown etiology, unexplained minor or major malformations, abnormalities of sexual development, abnormalities of growth, and features of a recognized genetic syndrome.
Chromosome analysis may also be warranted in individuals with apparent infertility or recurrent pregnancy loss. Individuals at risk of having a chromosome abnormality due to a positive family history should also be offered cytogenetic studies. Adjunct studies such as fluorescence in situ hybridization (FISH) can also be performed on cytogenetic preparations obtained from peripheral blood.